1. Diseases
  2. Sialidosis type 1

Sialidosis type 1

Disease Export to PDF
Name:
Sialidosis type 1
Description:
Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.
ORPHAcode:
812
Synonyms:
Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Normomorphic sialidosis
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
NEU1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Lysomal Storage (64 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY5 94.52 0 No comment
    AGA 100.00 0 No comment
    ARSA 100.00 0 No comment
    SLURP1 85.73 0 No comment
    ASAH1 99.94 0 No comment
    CHIT1 100.00 0 No comment
    CLN3 100.00 0 No comment
    CLN5 99.94 0 No comment
    CLN6 90.35 0 No comment
    CLN8 100.00 0 No comment
    CTNS 100.00 0 No comment
    CTSA 100.00 0 No comment
    CTSC 100.00 0 No comment
    CTSD 99.45 0 No comment
    CTSK 100.00 0 No comment
    DGUOK 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FUCA1 100.00 0 No comment
    GAA 100.00 0 No comment
    GALC 98.44 0 No comment
    GALNS 96.18 0 No comment
    GBA1 100.00 0 No comment
    GLA 100.00 0 No comment
    GLB1 100.00 0 No comment
    GM2A 100.00 0 No comment
    GNPTAB 100.00 0 No comment
    GNPTG 94.69 0 No comment
    GNS 100.00 0 No comment
    GUSB 100.00 0 No comment
    HEXA 100.00 0 No comment
    HEXB 99.82 0 No comment
    HGSNAT 93.95 0 No comment
    HYAL1 100.00 0 No comment
    IDS 100.00 0 No comment
    IDUA 88.67 0 No comment
    LAMP2 100.00 0 No comment
    LIPA 100.00 0 No comment
    MAN2B1 100.00 0 No comment
    MANBA 99.97 0 No comment
    MCOLN1 97.27 0 No comment
    MFSD8 100.00 0 No comment
    MGME1 100.00 0 No comment
    MPV17 100.00 0 No comment
    NAGA 100.00 0 No comment
    NAGLU 87.38 0 No comment
    NEU1 100.00 0 No comment
    NPC1 98.40 0 No comment
    NPC2 100.00 0 No comment
    OCRL 99.77 0 No comment
    POLG 100.00 0 No comment
    PPT1 100.00 0 No comment
    PSAP 100.00 0 No comment
    RRM2B 100.00 0 No comment
    SGSH 99.99 0 No comment
    SLC17A5 100.00 0 No comment
    SMPD1 100.00 0 No comment
    STS 100.00 0 No comment
    SUCLA2 100.00 0 No comment
    SUCLG1 95.74 0 No comment
    SUMF1 100.00 0 No comment
    TK2 95.90 0 No comment
    ACD 100.00 0 No comment
    TWNK 100.00 0 No comment
    TYMP 91.72 0 No comment